view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L24_chr15_28342851_28363084 | 28357919 | A | AGGATGGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00621.hp1 HG00733.hp2 HG01069.hp1 others(53): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0005c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 others(25): Show |
56 | 76 | 0.7368 | 18 | c.87_ others(24): Show |
p.Pro others(29): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 104/2499 | 35/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | NA18948.hp1 NA18954.hp1 NA19003.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0003g0005 |
4 | 24 | 0.1667 | 36 | c.69_ others(42): Show |
p.Pro others(47): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 104/2499 | 35/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | NA18974.hp1 NA18984.hp1 NA18989.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0002g0012 a0002c0002t0001g0002 others(1): Show |
9 | 29 | 0.3103 | 54 | c.51_ others(60): Show |
p.Pro others(65): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 104/2499 | 35/832 | chr15 | TogoVar | |||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp2 HG01168.hp1 HG01516.hp2 others(2): Show |
a0006a0017 | a0006c0006a0017c0018 | a0006c0006t0001a0017c0018t0003 | a0006c0006t0001g0001 a0006c0006t0001g0004 a0006c0006t0001g0042 others(1): Show |
5 | 92 | 0.0543 | 18 | c.69_ others(23): Show |
p.Pro others(29): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(29): Show |
disruptive_inframe_insertion | MODERATE | HG01106.hp1 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0018 | 1 | 88 | 0.0114 | 36 | c.51_ others(41): Show |
p.Pro others(47): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01433.hp2 | a0013 | a0013c0016 | a0013c0016t0002 | a0013c0016t0002g0046 | 1 | 88 | 0.0114 | 54 | c.33_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(65): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp1 HG04204.hp2 |
a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0043 a0010c0012t0002g0045 |
2 | 89 | 0.0225 | 72 | c.15_ others(77): Show |
p.Pro others(83): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(101): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp2 | a0014 | a0014c0015 | a0014c0015t0002 | a0014c0015t0002g0044 | 1 | 88 | 0.0114 | 108 | c.86_ others(113): Show |
p.Pro others(119): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327154 | T | TCGTATCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 | a0026 | a0026c0025 | a0026c0025t0003 | a0026c0025t0003g0031 | 1 | 182 | 0.0055 | 21 | c.168 others(30): Show |
p.Arg others(34): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1767/3731 | 1706/1950 | 569/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327319 | C | CCACATCT others(119): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp1 | a0029 | a0029c0036 | a0029c0036t0002 | a0029c0036t0002g0052 | 1 | 87 | 0.0115 | 126 | c.154 others(135): Show |
p.Arg others(139): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1602/3731 | 1541/1950 | 514/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327802 | T | TATCTTCT others(35): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp2 HG01069.hp1 HG01069.hp2 others(88): Show |
a0001a0008a0015others(7): Show | a0001c0001a0001c0006a0001c0017others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(46): Show |
91 | 182 | 0.5000 | 42 | c.105 others(51): Show |
p.Lys others(55): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1119/3731 | 1058/1950 | 353/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp1 | a0016 | a0016c0035 | a0016c0035t0002 | a0016c0035t0002g0049 | 1 | 125 | 0.0080 | 54 | c.68_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp1 HG01169.hp2 HG01192.hp1 others(11): Show |
a0004a0009a0019others(2): Show | a0004c0004a0004c0042a0009c0011others(3): Show | a0004c0004t0005a0004c0042t0005a0009c0011t0002others(4): Show | a0004c0004t0005g0008 a0004c0004t0005g0015 a0004c0004t0005g0065 others(7): Show |
14 | 138 | 0.1014 | 18 | c.51_ others(23): Show |
p.Pro others(29): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 NA18522.hp1 NA18957.hp1 |
a0005a0011 | a0005c0044a0011c0016 | a0005c0044t0004a0011c0016t0006 | a0005c0044t0004g0068 a0011c0016t0006g0066 a0011c0016t0006g0067 |
3 | 127 | 0.0236 | 36 | c.68_ others(41): Show |
p.Pro others(47): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp1 HG02083.hp2 HG02559.hp1 |
a0007a0016 | a0007c0038a0007c0039a0016c0040 | a0007c0038t0005a0007c0039t0002a0016c0040t0004 | a0007c0038t0005g0057 a0007c0039t0002g0058 a0016c0040t0004g0059 |
3 | 127 | 0.0236 | 54 | c.68_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(65): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0003a0010 | a0003c0003a0010c0034 | a0003c0003t0001a0003c0003t0002a0010c0034t0002 | a0003c0003t0001g0046 a0003c0003t0002g0012 a0003c0003t0002g0013 others(3): Show |
8 | 132 | 0.0606 | 72 | c.68_ others(77): Show |
p.Pro others(83): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(83): Show |
disruptive_inframe_insertion | MODERATE | HG02145.hp1 HG04184.hp1 HG04199.hp1 |
a0012 | a0012c0013a0012c0027 | a0012c0013t0002a0012c0027t0002 | a0012c0013t0002g0033 a0012c0013t0002g0035 a0012c0027t0002g0034 |
3 | 127 | 0.0236 | 90 | c.68_ others(95): Show |
p.Pro others(101): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(137): Show |
disruptive_inframe_insertion | MODERATE | HG02965.hp1 | a0028 | a0028c0023 | a0028c0023t0002 | a0028c0023t0002g0027 | 1 | 125 | 0.0080 | 144 | c.68_ others(149): Show |
p.Pro others(155): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00735.hp2 HG01069.hp1 HG02004.hp1 others(6): Show |
a0005a0011a0015others(1): Show | a0005c0005a0011c0037a0015c0014others(1): Show | a0005c0005t0002a0005c0005t0004a0011c0037t0005others(3): Show | a0005c0005t0002g0053 a0005c0005t0002g0055 a0005c0005t0004g0014 others(5): Show |
9 | 133 | 0.0677 | 36 | c.33_ others(41): Show |
p.Pro others(47): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG01192.hp2 HG01257.hp1 others(4): Show |
a0007a0021a0023others(2): Show | a0007c0009a0021c0030a0023c0028others(2): Show | a0007c0009t0002a0007c0009t0004a0021c0030t0002others(3): Show | a0007c0009t0002g0036 a0007c0009t0002g0040 a0007c0009t0004g0042 others(4): Show |
7 | 131 | 0.0534 | 54 | c.15_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(65): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp1 HG02630.hp1 HG02717.hp1 others(2): Show |
a0003a0010a0026others(1): Show | a0003c0026a0010c0012a0026c0025others(1): Show | a0003c0026t0003a0010c0012t0002a0010c0012t0004others(2): Show | a0003c0026t0003g0028 a0010c0012t0002g0029 a0010c0012t0004g0032 others(2): Show |
5 | 129 | 0.0388 | 72 | c.68_ others(77): Show |
p.Pro others(83): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(137): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp1 | a0034 | a0034c0033 | a0034c0033t0001 | a0034c0033t0001g0044 | 1 | 125 | 0.0080 | 144 | c.68_ others(149): Show |
p.Pro others(155): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440063 | C | CGCATCTT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 | a0022 | a0022c0024 | a0022c0024t0019 | a0022c0024t0019g0056 | 1 | 394 | 0.0025 | 21 | c.241 others(30): Show |
p.Ala others(34): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2473/3499 | 2411/2730 | 804/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(209): Show |
disruptive_inframe_insertion | MODERATE | NA19076.hp1 | a0034 | a0034c0032 | a0034c0032t0009 | a0034c0032t0009g0079 | 1 | 108 | 0.0093 | 216 | c.215 others(225): Show |
p.Arg others(229): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GOLGA6L4_chr15_84230773_84250358 | 84239998 | T | TACGTGAA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(40): Show |
a0002a0007a0010others(3): Show | a0002c0002a0002c0062a0007c0007others(5): Show | a0002c0002t0002a0002c0002t0010a0002c0002t0019others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0042 a0002c0002t0002g0047 others(17): Show |
43 | 52 | 0.8269 | 21 | c.659 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 722/4553 | 660/1725 | 220/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240042 | C | CAGGAGGA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19087.hp2 | a0042 | a0042c0032 | a0042c0032t0006 | a0042c0032t0006g0002 | 1 | 55 | 0.0182 | 15 | c.688 others(22): Show |
p.Arg others(27): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 751/4553 | 689/1725 | 230/574 | chr15 | TogoVar | |||
GOLGA6L4_chr15_84230773_84250358 | 84240042 | C | CGTGAACA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(171): Show |
a0001a0004a0005others(20): Show | a0001c0001a0001c0005a0001c0008others(38): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(104): Show |
174 | 228 | 0.7632 | 21 | c.708 others(28): Show |
p.Leu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 791/4553 | 729/1725 | 243/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240042 | C | CGTGAACA others(35): Show |
disruptive_inframe_insertion | MODERATE | HG00621.hp1 HG02015.hp2 HG02135.hp1 others(17): Show |
a0003 | a0003c0003a0003c0052 | a0003c0003t0001a0003c0003t0003a0003c0003t0006others(1): Show | a0003c0003t0001g0002 a0003c0003t0003g0002 a0003c0003t0003g0023 others(10): Show |
20 | 74 | 0.2703 | 42 | c.728 others(49): Show |
p.Leu others(55): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 791/4553 | 729/1725 | 243/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240050 | G | GGAGGAGA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01981.hp1 HG01981.hp2 HG01993.hp1 |
a0011 | a0011c0026a0011c0055 | a0011c0026t0001a0011c0055t0001 | a0011c0026t0001g0014 a0011c0026t0001g0074 a0011c0055t0001g0014 |
3 | 250 | 0.0120 | 21 | c.716 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 779/4553 | 717/1725 | 239/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240056 | G | GAGGCTGT others(14): Show |
disruptive_inframe_insertion | MODERATE | NA18973.hp1 | a0038 | a0038c0034 | a0038c0034t0001 | a0038c0034t0001g0005 | 1 | 250 | 0.0040 | 21 | c.722 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 785/4553 | 723/1725 | 241/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240058 | G | GGCTGTGT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 NA18906.hp2 NA19043.hp2 |
a0016a0037 | a0016c0022a0037c0058 | a0016c0022t0003a0016c0022t0023a0037c0058t0003 | a0016c0022t0003g0033 a0016c0022t0023g0034 a0037c0058t0003g0035 |
3 | 250 | 0.0120 | 21 | c.724 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 787/4553 | 725/1725 | 242/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240063 | T | TGTGAACA others(98): Show |
disruptive_inframe_insertion | MODERATE | HG03225.hp2 | a0030 | a0030c0048 | a0030c0048t0011 | a0030c0048t0011g0013 | 1 | 246 | 0.0041 | 105 | c.728 others(112): Show |
p.Leu others(118): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 791/4553 | 729/1725 | 243/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240125 | A | ATGTGAAC others(56): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 | a0027 | a0027c0060 | a0027c0060t0001 | a0027c0060t0001g0009 | 1 | 246 | 0.0041 | 63 | c.814 others(70): Show |
p.Leu others(76): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 877/4553 | 815/1725 | 272/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240127 | G | GTGAACAT others(77): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp2 | a0023 | a0023c0051 | a0023c0051t0003 | a0023c0051t0003g0002 | 1 | 250 | 0.0040 | 84 | c.779 others(91): Show |
p.Glu others(97): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 842/4553 | 780/1725 | 260/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240169 | A | ATGAACAG others(98): Show |
disruptive_inframe_insertion | MODERATE | NA19068.hp1 | a0041 | a0041c0036 | a0041c0036t0012 | a0041c0036t0012g0002 | 1 | 172 | 0.0058 | 105 | c.854 others(112): Show |
p.Leu others(118): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 917/4553 | 855/1725 | 285/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240169 | A | ATGAACAG others(77): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00621.hp1 HG01109.hp1 others(67): Show |
a0003a0004a0005others(9): Show | a0003c0003a0003c0052a0004c0004others(17): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0006others(26): Show | a0003c0003t0001g0002 a0003c0003t0003g0002 a0003c0003t0003g0023 others(44): Show |
70 | 241 | 0.2905 | 84 | c.884 others(91): Show |
p.Glu others(97): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 947/4553 | 885/1725 | 295/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240197 | G | GGAGGAGA others(35): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp2 NA18939.hp2 NA18964.hp1 others(2): Show |
a0009a0023 | a0009c0012a0023c0051 | a0009c0012t0001a0009c0012t0007a0023c0051t0003 | a0009c0012t0001g0007 a0009c0012t0001g0083 a0009c0012t0007g0084 others(1): Show |
5 | 249 | 0.0201 | 42 | c.884 others(49): Show |
p.Glu others(55): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 947/4553 | 885/1725 | 295/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240445 | A | AGCAGGAG others(71): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 | a0025 | a0025c0030 | a0025c0030t0040 | a0025c0030t0040g0011 | 1 | 249 | 0.0040 | 78 | c.113 others(87): Show |
p.Glu others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1277/4553 | 1215/1725 | 405/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534913 | C | CATCTTCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 | a0022 | a0022c0048 | a0022c0048t0011 | a0022c0048t0011g0031 | 1 | 212 | 0.0047 | 21 | c.150 others(30): Show |
p.Ile others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1611/4013 | 1520/2175 | 507/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535252 | G | GCGTATCT others(32): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp2 HG03195.hp2 |
a0016 | a0016c0017 | a0016c0017t0004 | a0016c0017t0004g0083 a0016c0017t0004g0084 |
2 | 211 | 0.0095 | 39 | c.114 others(48): Show |
p.Arg others(52): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1272/4013 | 1181/2175 | 394/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535333 | T | TATCTTCT others(35): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp1 HG01099.hp2 HG01934.hp2 others(12): Show |
a0005a0015a0026others(2): Show | a0005c0007a0005c0011a0005c0024others(4): Show | a0005c0007t0005a0005c0011t0005a0005c0024t0005others(4): Show | a0005c0007t0005g0020 a0005c0007t0005g0039 a0005c0007t0005g0040 others(9): Show |
15 | 115 | 0.1304 | 42 | c.105 others(51): Show |
p.Met others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1191/4013 | 1100/2175 | 367/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | A | AGGATGGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp2 HG01071.hp2 HG01346.hp2 others(14): Show |
a0008a0011a0012others(3): Show | a0008c0008a0008c0030a0011c0012others(5): Show | a0008c0008t0003a0008c0008t0010a0008c0030t0003others(6): Show | a0008c0008t0003g0022 a0008c0008t0003g0045 a0008c0008t0003g0048 others(9): Show |
17 | 139 | 0.1223 | 18 | c.93_ others(24): Show |
p.Pro others(29): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 110/2175 | 37/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG01255.hp1 HG01516.hp1 HG01517.hp1 |
a0010 | a0010c0014 | a0010c0014t0007 | a0010c0014t0007g0013 | 3 | 125 | 0.0240 | 36 | c.110 others(43): Show |
p.Pro others(47): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 110/2175 | 37/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp1 HG01099.hp2 HG01884.hp1 others(27): Show |
a0003a0005a0010others(1): Show | a0003c0003a0005c0007a0005c0011others(3): Show | a0003c0003t0003a0003c0003t0010a0005c0007t0005others(4): Show | a0003c0003t0003g0004 a0003c0003t0003g0007 a0003c0003t0003g0019 others(12): Show |
30 | 152 | 0.1974 | 36 | c.75_ others(42): Show |
p.Pro others(47): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 110/2175 | 37/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01257.hp2 HG02965.hp1 NA18982.hp2 |
a0019a0027a0032 | a0019c0021a0027c0023a0032c0022 | a0019c0021t0007a0027c0023t0005a0032c0022t0002 | a0019c0021t0007g0033 a0027c0023t0005g0034 a0032c0022t0002g0032 |
3 | 125 | 0.0240 | 54 | c.57_ others(60): Show |
p.Pro others(65): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 110/2175 | 37/724 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842973 | C | CCACATCT others(14): Show |
disruptive_inframe_insertion | MODERATE | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0089 | 1 | 384 | 0.0026 | 21 | c.113 others(30): Show |
p.Arg others(34): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1225/2367 | 1130/1869 | 377/622 | chr15 | TogoVar | |||
GOLGA6L9_chr15_82424816_82444153 | 82434267 | T | TGTGAACA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00408.hp1 HG02056.hp2 others(4): Show |
a0009 | a0009c0010 | a0009c0010t0008a0009c0010t0040 | a0009c0010t0008g0019 a0009c0010t0008g0042 a0009c0010t0040g0094 |
7 | 454 | 0.0154 | 21 | c.687 others(28): Show |
p.Leu others(34): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 6/9 | 972/4305 | 708/1299 | 236/432 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8S_chr15_23349748_23373341 | 23361364 | A | AAGGAGAG others(14): Show |
disruptive_inframe_insertion | MODERATE | NA19030.hp2 | a0081 | a0081c0101 | a0081c0101t0001 | a0081c0101t0001g0073 | 1 | 428 | 0.0023 | 21 | c.107 others(30): Show |
p.Arg others(13): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 12/19 | 1153/5186 | 1091/1917 | 364/638 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8T_chr15_30130051_30153748 | 30144828 | T | TGAA | disruptive_inframe_insertion | MODERATE | HG00558.hp2 HG01256.hp2 HG01258.hp1 others(24): Show |
a0003a0008a0021others(2): Show | a0003c0005a0003c0024a0003c0049others(4): Show | a0003c0005t0005a0003c0005t0007a0003c0024t0012others(6): Show | a0003c0005t0005g0044 a0003c0005t0005g0139 a0003c0005t0005g0144 others(19): Show |
27 | 290 | 0.0931 | 3 | c.141 others(12): Show |
p.Lys others(6): Show |
GOLGA8T | ENSG00000261247.2 | transcript | ENST00000569052.2 | protein_coding | 16/19 | 1520/5175 | 1422/1896 | 474/631 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOT2_chr16_58702131_58739316 | 58734157 | C | CGCGGCGG others(17): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0049 | 1 | 398 | 0.0025 | 24 | c.48_ others(29): Show |
p.Ala others(35): Show |
GOT2 | ENSG00000125166.13 | transcript | ENST00000245206.10 | protein_coding | 1/10 | 159/2421 | 71/1293 | 24/430 | chr16 | TogoVar |